A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10190898



Internal ID192714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175372875..175376028hg38UCSC Ensembl
Innerchr1:175372875..175376028hg38UCSC Ensembl
Outerchr1:175372701..175376136hg38UCSC Ensembl
chr1:175342011..175345164hg19UCSC Ensembl
Innerchr1:175342011..175345164hg19UCSC Ensembl
Outerchr1:175341837..175345272hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383154
hg193154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587986
Supporting Variants
SamplesNA20412
Known GenesTNR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10190898
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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